Submissions for variant NM_000359.3(TGM1):c.1552G>A (p.Val518Met)

gnomAD frequency: 0.01146  dbSNP: rs35312232

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246360	SCV000303825	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000246360	SCV000514897	benign	not specified	2015-06-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954979	SCV001101649	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000013319	SCV001139424	likely benign	Autosomal recessive congenital ichthyosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000013319	SCV001271634	uncertain significance	Autosomal recessive congenital ichthyosis 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV000013319	SCV001435132	benign	Autosomal recessive congenital ichthyosis 1		criteria provided, single submitter	research	The p.Val518Met variant in TGM1 has been identified in at least 2 individuals with lamellar ichthyosis (PMID: 9545389), and has been identified in >1% of Euroopean (Finnish) chromosomes and 6 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for lamellar ichthyosis.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000246360	SCV002050879	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954979	SCV002585463	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TGM1: BP4, BS1, BS2
OMIM	RCV000013319	SCV000033566	pathogenic	Autosomal recessive congenital ichthyosis 1	2001-04-01	no assertion criteria provided	literature only
Natera, Inc.	RCV000013319	SCV001459977	benign	Autosomal recessive congenital ichthyosis 1	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000954979	SCV001931531	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246360	SCV001953140	benign	not specified		no assertion criteria provided	clinical testing